283 related articles for article (PubMed ID: 16733669)
1. PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Digilio MC; Sarkozy A; Pacileo G; Limongelli G; Marino B; Dallapiccola B
Eur J Pediatr; 2006 Nov; 165(11):803-5. PubMed ID: 16733669
[TBL] [Abstract][Full Text] [Related]
2. Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC; Pacileo G; Sarkozy A; Limongelli G; Conti E; Cerrato F; Marino B; Pizzuti A; Calabrò R; Dallapiccola B
Birth Defects Res A Clin Mol Teratol; 2004 Feb; 70(2):95-8. PubMed ID: 14991917
[TBL] [Abstract][Full Text] [Related]
3. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T; Yoshida R
Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
[TBL] [Abstract][Full Text] [Related]
4. LEOPARD syndrome: clinical diagnosis in the first year of life.
Digilio MC; Sarkozy A; de Zorzi A; Pacileo G; Limongelli G; Mingarelli R; Calabrò R; Marino B; Dallapiccola B
Am J Med Genet A; 2006 Apr; 140(7):740-6. PubMed ID: 16523510
[TBL] [Abstract][Full Text] [Related]
5. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
Bertola DR; Pereira AC; Albano LM; De Oliveira PS; Kim CA; Krieger JE
Genet Test; 2006; 10(3):186-91. PubMed ID: 17020470
[TBL] [Abstract][Full Text] [Related]
6. Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.
Östman-Smith I
Circ Genom Precis Med; 2023 Aug; 16(4):359-362. PubMed ID: 37325916
[No Abstract] [Full Text] [Related]
7. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
[TBL] [Abstract][Full Text] [Related]
8. A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
Sarkozy A; Obregon MG; Conti E; Esposito G; Mingarelli R; Pizzuti A; Dallapiccola B
Eur J Hum Genet; 2004 Dec; 12(12):1069-72. PubMed ID: 15470362
[TBL] [Abstract][Full Text] [Related]
9. [Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11].
Dereure O
Ann Dermatol Venereol; 2005 Apr; 132(4):400. PubMed ID: 15886577
[No Abstract] [Full Text] [Related]
10. [PTPN11 gene mutation in LEOPARD syndrome].
Paradisi M; Pedicelli C; Ciasulli A; Pinto F; Conti E; Sarkozy A; Angelo C
Minerva Pediatr; 2005 Aug; 57(4):189-93. PubMed ID: 16172598
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
Takahashi K; Kogaki S; Kurotobi S; Nasuno S; Ohta M; Okabe H; Wada K; Sakai N; Taniike M; Ozono K
Eur J Pediatr; 2005 Aug; 164(8):497-500. PubMed ID: 15889278
[TBL] [Abstract][Full Text] [Related]
12. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B; Sarkozy A; Pennacchio LA; Carta C; Oishi K; Martinelli S; Pogna EA; Schackwitz W; Ustaszewska A; Landstrom A; Bos JM; Ommen SR; Esposito G; Lepri F; Faul C; Mundel P; López Siguero JP; Tenconi R; Selicorni A; Rossi C; Mazzanti L; Torrente I; Marino B; Digilio MC; Zampino G; Ackerman MJ; Dallapiccola B; Tartaglia M; Gelb BD
Nat Genet; 2007 Aug; 39(8):1007-12. PubMed ID: 17603483
[TBL] [Abstract][Full Text] [Related]
13. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K; Shaw AC; Crosby AH; Newbury-Ecob R; Greenhalgh L; Temple IK; Law C; Patel A; Patton MA; Jeffery S
J Hum Genet; 2005; 50(1):21-25. PubMed ID: 15690106
[TBL] [Abstract][Full Text] [Related]
14. PTPN11 mutations in LEOPARD syndrome.
Legius E; Schrander-Stumpel C; Schollen E; Pulles-Heintzberger C; Gewillig M; Fryns JP
J Med Genet; 2002 Aug; 39(8):571-4. PubMed ID: 12161596
[TBL] [Abstract][Full Text] [Related]
15. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Digilio MC; Conti E; Sarkozy A; Mingarelli R; Dottorini T; Marino B; Pizzuti A; Dallapiccola B
Am J Hum Genet; 2002 Aug; 71(2):389-94. PubMed ID: 12058348
[TBL] [Abstract][Full Text] [Related]
16. Leopard syndrome.
Sarkozy A; Digilio MC; Dallapiccola B
Orphanet J Rare Dis; 2008 May; 3():13. PubMed ID: 18505544
[TBL] [Abstract][Full Text] [Related]
17. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
Kontaridis MI; Swanson KD; David FS; Barford D; Neel BG
J Biol Chem; 2006 Mar; 281(10):6785-92. PubMed ID: 16377799
[TBL] [Abstract][Full Text] [Related]
18. [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
Froster UG; Glander HJ; Heinritz W
Hautarzt; 2003 Dec; 54(12):1190-2. PubMed ID: 14634749
[TBL] [Abstract][Full Text] [Related]
19. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM; Ekvall S; Strömberg B; Holmström G; Thuresson AC; Annerén G; Bondeson ML
Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
[TBL] [Abstract][Full Text] [Related]
20. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren B; Hadchouel A; Saba S; Sznajer Y; Bonneau D; Leheup B; Boute O; Gaillard D; Lacombe D; Layet V; Marlin S; Mortier G; Toutain A; Beylot C; Baumann C; Verloes A; Cavé H;
J Med Genet; 2004 Nov; 41(11):e117. PubMed ID: 15520399
[No Abstract] [Full Text] [Related]
[Next] [New Search]